Variant report

Variant	rs1502275
Chromosome Location	chr11:100433972-100433973
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10894983	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224283	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11224284	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11224285	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11224287	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11224289	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11224290	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11224291	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11224292	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11224293	0.88[EUR][1000 genomes]
rs11224296	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11600772	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11606531	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17095168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4754689	1.00[ASN][1000 genomes]
rs646240	1.00[LWK][hapmap]
rs66489236	0.88[EUR][1000 genomes]
rs72992361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72992370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7931511	0.88[EUR][1000 genomes]
rs7947335	0.99[ASN][1000 genomes]
rs866903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053430	chr11:99888390-100629136	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1042067	chr11:99889697-100629136	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv556122	chr11:99893282-100585889	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1037689	chr11:99895378-100624599	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1040942	chr11:99895378-100629136	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1039852	chr11:99901695-100610533	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv541152	chr11:99901695-100610533	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1045190	chr11:99913193-100627395	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv541153	chr11:99913193-100627395	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv529454	chr11:99913394-100627255	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv520995	chr11:100163957-100681211	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1043022	chr11:100387466-100610533	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv832246	chr11:100426725-100606957	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100427600-100435200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:100427800-100434200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr11:100431400-100434000	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr11:100432000-100434000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr11:100432000-100434000	Enhancers	HUVEC	blood vessel
6	chr11:100432000-100434200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:100432200-100434000	Enhancers	Adipose Nuclei	Adipose
8	chr11:100432200-100434200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:100432200-100434200	Enhancers	Rectal Smooth Muscle	rectum
10	chr11:100432200-100434600	Enhancers	Fetal Lung	lung
11	chr11:100432200-100434600	Enhancers	NHLF	lung
12	chr11:100432200-100434800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:100432200-100434800	Enhancers	NH-A	brain
14	chr11:100432400-100434000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr11:100432400-100434000	Enhancers	Fetal Stomach	stomach
16	chr11:100432400-100434000	Enhancers	Osteobl	bone
17	chr11:100432400-100434400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:100432400-100434400	Enhancers	Stomach Smooth Muscle	stomach
19	chr11:100432400-100434400	Enhancers	HMEC	breast
20	chr11:100432400-100434400	Enhancers	NHDF-Ad	bronchial
21	chr11:100432400-100434600	Enhancers	Fetal Muscle Leg	muscle
22	chr11:100432400-100434600	Enhancers	NHEK	skin
23	chr11:100432600-100434600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:100432800-100434000	Enhancers	Ovary	ovary
25	chr11:100432800-100434400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr11:100433200-100434000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:100433400-100442200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:100433600-100434000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:100433600-100434000	Enhancers	Brain Cingulate Gyrus	brain
30	chr11:100433600-100434200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:100433600-100434400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:100433600-100434400	Enhancers	Left Ventricle	heart
33	chr11:100433600-100434600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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